HCN4 Chromosome 15
Hyperpolarization activated cyclic nucleotide gated potassium channel 4
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What This Gene Does
This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Cyclic nucleotide gated channels
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000138622
Associated Conditions (17)
Brugada syndrome 8
Cardiovascular phenotype
Sick sinus syndrome 2
autosomal dominant
HCN4-related disorder
Cardiac arrhythmia
Cardiomyopathy
Congestive heart failure
Epilepsy
idiopathic generalized
susceptibility to
18
Cardiac arrest
Brugada syndrome
Primary dilated cardiomyopathy
Sudden cardiac death
Left ventricular noncompaction cardiomyopathy
Key Variants
RS1057518303
Conflicting classifications of pathogenicity
Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8
Health Risk
RS1060503838
Conflicting classifications of pathogenicity
Brugada syndrome 8, Brugada syndrome 8
Health Risk
RS1179112808
Conflicting classifications of pathogenicity
Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8
Health Risk
RS1183278712
Conflicting classifications of pathogenicity
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Health Risk
RS1226393084
Conflicting classifications of pathogenicity
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Health Risk
RS1302048506
Conflicting classifications of pathogenicity
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Health Risk
RS1310424203
Conflicting classifications of pathogenicity
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Health Risk
RS140354126
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 8, HCN4-related disorder
Health Risk
RS143339036
Conflicting classifications of pathogenicity
Brugada syndrome 8, Cardiac arrhythmia, Cardiovascular phenotype
Health Risk
RS145862018
Conflicting classifications of pathogenicity
Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8
Health Risk
RS148453034
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Brugada syndrome 8, Sick sinus syndrome 2
Health Risk
RS149033101
Conflicting classifications of pathogenicity
Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748279911 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Sick sinus syndrome 2 |
| RS748390169 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Brugada syndrome 8 |
| RS749785521 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 8, HCN4-related disorder |
| RS750833108 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS750941501 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS753331607 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS755614529 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Sick sinus syndrome 2, autosomal dominant |
| RS756052150 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS758468167 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Brugada syndrome 8, Epilepsy |
| RS759329385 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS768157473 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, HCN4-related disorder |
| RS773525527 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS773857091 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Sick sinus syndrome 2, autosomal dominant |
| RS775134377 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS775803239 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS777648103 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS778801845 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS779402752 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS780719805 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Sick sinus syndrome 2, autosomal dominant |
| RS780923169 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS781730381 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, HCN4-related disorder |
| RS886042819 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS998387579 | Health Risk | Conflicting classifications of pathogenicity | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS1060500103 | Health Risk | Likely pathogenic | Brugada syndrome 8, Brugada syndrome 8 |
| RS1060500107 | Health Risk | Likely pathogenic | Brugada syndrome 8, HCN4-related disorder, Brugada syndrome 8 |
| RS1238684043 | Health Risk | Likely pathogenic | Brugada syndrome 8, Brugada syndrome 8 |
| RS1555475434 | Health Risk | Likely pathogenic | Brugada syndrome 8, Brugada syndrome 8 |
| RS2151217037 | Health Risk | Likely pathogenic | Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS2151217044 | Health Risk | Likely pathogenic | Brugada syndrome 8, Brugada syndrome 8 |
| RS2549068917 | Health Risk | Likely pathogenic | Brugada syndrome 8, Brugada syndrome 8 |
| RS2549071412 | Health Risk | Likely pathogenic | HCN4-related disorder, HCN4-related disorder |
| RS104894488 | Health Risk | Pathogenic | Sick sinus syndrome 2, autosomal dominant, Sick sinus syndrome 2 |
| RS1057519015 | Health Risk | Pathogenic | Sick sinus syndrome 2, autosomal dominant, Sick sinus syndrome 2 |
| RS1057519274 | Health Risk | Pathogenic | Sick sinus syndrome 2, autosomal dominant, Sick sinus syndrome 2 |
| RS1057519276 | Health Risk | Pathogenic | Sick sinus syndrome 2, autosomal dominant, Sick sinus syndrome 2 |
| RS1384829419 | Health Risk | Pathogenic | Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
| RS755356387 | Health Risk | Pathogenic | Brugada syndrome 8, Cardiovascular phenotype, Brugada syndrome 8 |
| RS794727637 | Health Risk | Pathogenic | Brugada syndrome 8, Cardiovascular phenotype, Sick sinus syndrome 2 |
| RS1057519275 | Health Risk | Pathogenic/Likely pathogenic | Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8 |
| RS121908411 | Health Risk | Pathogenic/Likely pathogenic | Sick sinus syndrome 2, autosomal dominant, Brugada syndrome 8 |
| RS1454748709 | Health Risk | Pathogenic/Likely pathogenic | Left ventricular noncompaction cardiomyopathy, Brugada syndrome 8, Cardiovascular phenotype |
| RS2151221183 | Health Risk | Pathogenic/Likely pathogenic | Brugada syndrome 8, HCN4-related disorder, Brugada syndrome 8 |